The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Abstract
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene ( PKD2 ) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
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Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
Cited by
Autosomal dominant polycystic kidney disease
Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550
The Ciliopathies: An Emerging Class of Human Genetic Disorders
Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144
Yoder, B. K., Hou, X., & Guay-Woodford, L. M. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000029587.47950.25 · Cited by 935
Wilson, P. D. (2004) · New England Journal of Medicine · doi:10.1056/nejmra022161 · Cited by 916
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Metadata
- Authors
- Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Deltas, C. C., Peters, D. J. M., & Somlo, S.
- Venue
- Science
- Published
- 1996-05-31
- Volume
- 272
- Issue
- 5266
- Pages
- 1339-1342
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2005026678
- Cited by
- 1,406
- References
- 1
- FWCI
- 26.07
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Deltas, C. C., Peters, D. J. M., & Somlo, S. (1996). PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein. Science. https://doi.org/10.1126/science.272.5266.1339
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
